메뉴 건너뛰기




Volumn 16, Issue 5-6, 2000, Pages 396-399

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: Definition of a new clinical syndrome

Author keywords

Anal atresia; Facial anomalies; Hypospadia; Partial monosomy 13q

Indexed keywords

ANUS ATRESIA; ARTICLE; CASE REPORT; CHROMOSOME 13Q; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE DELETION; HUMAN; HYPOSPADIAS; INFANT; KIDNEY AGENESIS; MALE; MALE GENITAL TRACT MALFORMATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033926494     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003830000379     Document Type: Article
Times cited : (13)

References (9)
  • 1
    • 0003057157 scopus 로고
    • Partial trisomies and deletions of chromosome 13
    • Yunis JJ (ed) Academic Press, New York
    • Niebuhr E (1977) Partial trisomies and deletions of chromosome 13. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York, pp 273-299
    • (1977) New Chromosomal Syndromes , pp. 273-299
    • Niebuhr, E.1
  • 3
    • 0016703302 scopus 로고
    • Trisomy 9p due to paternal translocation, t(9;13)(q13;q12)
    • Schinzel A, Hayashi K, Schmid W (1975) Trisomy 9p due to paternal translocation, t(9;13)(q13;q12). Humangenetik 30: 307-316
    • (1975) Humangenetik , vol.30 , pp. 307-316
    • Schinzel, A.1    Hayashi, K.2    Schmid, W.3
  • 4
    • 0029904860 scopus 로고    scopus 로고
    • Evidence for a critical region for penoscrotal inversion, hypo-spadias, and imperforate anus within chromosomal region 13q32.2q34
    • Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK (1996) Evidence for a critical region for penoscrotal inversion, hypo-spadias, and imperforate anus within chromosomal region 13q32.2q34. Am J Med Genet 65: 218-221
    • (1996) Am J Med Genet , vol.65 , pp. 218-221
    • Bartsch, O.1    Kuhnle, U.2    Wu, L.L.3    Schwinger, E.4    Hinkel, G.K.5
  • 5
    • 0027402372 scopus 로고
    • Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
    • Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993) Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45: 52-59
    • (1993) Am J Med Genet , vol.45 , pp. 52-59
    • Brown, S.1    Gersen, S.2    Anyane-Yeboa, K.3    Warburton, D.4
  • 6
    • 0029767887 scopus 로고    scopus 로고
    • Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition
    • Gershoni-Baruch R, Zekaria D (1996) Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition. Clin Dysmorphol 5: 289-294
    • (1996) Clin Dysmorphol , vol.5 , pp. 289-294
    • Gershoni-Baruch, R.1    Zekaria, D.2
  • 8
    • 0020261221 scopus 로고
    • Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13(q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)
    • Pfeiffer RA, Ott R, Gilgenkrantz S, Alexandre P (1982) Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13(q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). Hum Genet 62: 358-360
    • (1982) Hum Genet , vol.62 , pp. 358-360
    • Pfeiffer, R.A.1    Ott, R.2    Gilgenkrantz, S.3    Alexandre, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.